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Article

Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy

30 Mar 2017

Abstract excerpt

Summary Objective Epileptic encephalopathy (EE) is a heterogeneous condition associated with deteriorations of cognitive, sensory and/or motor functions as a consequence of epileptic activity. The phenomenon is the most common and severe in infancy and early childhood. Genetic‐based diagnosis in EE patients is challenging owing to genetic and phenotypic heterogeneity of numerous monogenic disorders and the fact...

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PMID: 29588952
DOI: 10.1002/epi4.12055

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